Variant report

Variant	rs9443674
Chromosome Location	chr6:80198123-80198124
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80193082..80195834-chr6:80196342..80199250,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10223566	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16890780	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35338066	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6925849	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7751498	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7760022	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7763178	1.00[AMR][1000 genomes]
rs9443676	1.00[AMR][1000 genomes]
rs9443677	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443680	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443683	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448741	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448742	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030126	chr6:80113449-80209165	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv886303	chr6:80147225-80252423	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80171200-80220000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:80171600-80226600	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:80178200-80212800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:80179600-80207400	Weak transcription	Ovary	ovary
5	chr6:80179800-80208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:80179800-80217200	Weak transcription	Aorta	Aorta
7	chr6:80179800-80235000	Weak transcription	HSMMtube	muscle
8	chr6:80180400-80215400	Weak transcription	Fetal Lung	lung
9	chr6:80181400-80222000	Weak transcription	Left Ventricle	heart
10	chr6:80187600-80200400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:80188600-80204800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:80188800-80198400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:80189600-80216600	Weak transcription	Fetal Brain Female	brain
14	chr6:80189600-80225200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:80190200-80203000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:80190200-80234400	Weak transcription	Fetal Intestine Large	intestine
17	chr6:80192400-80223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:80192400-80226800	Weak transcription	Brain Anterior Caudate	brain
19	chr6:80193800-80199600	Weak transcription	Psoas Muscle	Psoas
20	chr6:80194200-80204800	Weak transcription	NH-A	brain
21	chr6:80194600-80201200	Weak transcription	Right Ventricle	heart
22	chr6:80194600-80217200	Weak transcription	Brain Germinal Matrix	brain
23	chr6:80194800-80225400	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:80195000-80198600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:80195200-80199000	Weak transcription	Fetal Stomach	stomach
26	chr6:80195400-80235000	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:80195600-80201400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:80195800-80199400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:80195800-80218000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:80196400-80199200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:80196600-80198200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:80196800-80198400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:80197200-80204400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:80197200-80208000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:80197400-80204400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:80197400-80224200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr6:80197600-80198600	Weak transcription	Adipose Nuclei	Adipose
38	chr6:80197600-80220400	Weak transcription	Fetal Kidney	kidney
39	chr6:80198000-80221400	Weak transcription	HSMM	muscle

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